ClinVar for Gene (Select 126370) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302571	NM_001004713.2(OR1I1):c.329T>C (p.Met110Thr)	OR1I1 (M110T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302570	NM_001004713.2(OR1I1):c.874A>G (p.Ile292Val)	OR1I1 (I292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302569	NM_001004713.2(OR1I1):c.430C>A (p.Leu144Met)	OR1I1 (L144M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302568	NM_001004713.2(OR1I1):c.512G>T (p.Gly171Val)	OR1I1 (G171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302567	NM_001004713.2(OR1I1):c.415C>T (p.Pro139Ser)	OR1I1 (P139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204895	NM_001004713.2(OR1I1):c.742G>A (p.Val248Met)	OR1I1 (V248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204894	NM_001004713.2(OR1I1):c.572A>G (p.Asp191Gly)	OR1I1 (D191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204893	NM_001004713.2(OR1I1):c.536G>C (p.Cys179Ser)	OR1I1 (C179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204892	NM_001004713.2(OR1I1):c.493C>G (p.Gln165Glu)	OR1I1 (Q165E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204891	NM_001004713.2(OR1I1):c.196C>T (p.Leu66Phe)	OR1I1 (L66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204890	NM_001004713.2(OR1I1):c.115A>T (p.Ile39Phe)	OR1I1 (I39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2551073	NM_001004713.2(OR1I1):c.281T>C (p.Phe94Ser)	OR1I1 (F94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539414	NM_001004713.2(OR1I1):c.364C>T (p.Arg122Cys)	OR1I1 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 2484495	NM_001004713.2(OR1I1):c.239A>T (p.Lys80Met)	OR1I1 (K80M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477135	NM_001004713.2(OR1I1):c.354G>A (p.Met118Ile)	OR1I1 (M118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2398124	NM_001004713.2(OR1I1):c.391C>T (p.Arg131Cys)	OR1I1 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386878	NM_001004713.2(OR1I1):c.360C>G (p.Ile120Met)	OR1I1 (I120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333185	NM_001004713.2(OR1I1):c.395A>G (p.Tyr132Cys)	OR1I1 (Y132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317915	NM_001004713.2(OR1I1):c.195C>G (p.Asn65Lys)	OR1I1 (N65K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317211	NM_001004713.2(OR1I1):c.509C>T (p.Ala170Val)	OR1I1 (A170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298069	NM_001004713.2(OR1I1):c.1024C>T (p.Pro342Ser)	OR1I1 (P342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295244	NM_001004713.2(OR1I1):c.118A>C (p.Ile40Leu)	OR1I1 (I40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249940	NM_001004713.2(OR1I1):c.166C>T (p.His56Tyr)	OR1I1 (H56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218506	NM_001004713.2(OR1I1):c.838G>A (p.Val280Met)	OR1I1 (V280M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215000	NM_001004713.2(OR1I1):c.370G>A (p.Val124Met)	OR1I1 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526657	GRCh37/hg19 19p13.12(chr19:15184922-15582812)	BRD4, EPHX3 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 777448	NM_001004713.2(OR1I1):c.659G>A (p.Arg220His)	OR1I1 (R220H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 43